Papers - Kosaki Kenjiro
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遺伝学はゲノム情報でどう変わるか ?ポストゲノム時代を展望する
Kosaki Kenjirou
遺伝 ( 別冊15 ) 158-164 2002.11
Research paper (scientific journal), Single Work
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PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
KOSAKI KENJIROKosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T
Journal of Clinical Endocrinology and Metabolism 87 ( 8 ) 3529-3533 2002.08
Research paper (scientific journal), Joint Work
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A novel mutation in the FOXL2 gene in a patient with Blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid.
KOSAKI KENJIROKosaki K, Ogata T, Kosaki R, Sato S, Matsuo N
Ophthalmic Genetics 23 ( 1 ) 43-47 2002.03
Research paper (scientific journal), Joint Work
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Complete mutation analysis panel of the 39 human HOX genes
Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Sasaki K, Tomita M, McGinnis W, Matuso N
Teratology 65 ( 2 ) 50-62 2002.02
Research paper (scientific journal), Joint Work
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Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.
KOSAKI KENJIROFujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Takahashi T, Matsuo N, Kosaki K
Teratology 65 ( 1 ) 10-18 2002.01
Research paper (scientific journal), Joint Work
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Micropenis and the AR Gene: Mutation and CAG Repeat-Length Analysis.
KOSAKI KENJIROIshii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T, Matsuo N
Journal of Clinical Endocrinology and Metabolism 86 ( 11 ) 5372-5378 2001.11
Research paper (scientific journal), Joint Work
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A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome.
KOSAKI KENJIRO Kosaki R, Ohashi H, Yoshihashi H, Suzuki T, Kosaki K
Clinical Genetics 60 ( 4 ) 314-315 2001.10
Research paper (scientific journal), Joint Work
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Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
Kosaki K, Shimasaki N, Fukushima H, Hara M, Ogata T, Matsuo N
American Journal of Human Genetics 69 ( 3 ) 664-666 2001.09
Research paper (scientific journal), Joint Work
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Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder.
KOSAKI KENJIROKosaki K, Suzuki T, Kosaki R, Yoshihashi H, Itoh M, Goto Y, Matsuo N
Molecular Psychiatry 6 ( 1 ) 87-91 2001.06
Research paper (scientific journal), Joint Work
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Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes.
KOSAKI KENJIROMaeyama K, Kosaki R, Yoshihashi H, Casey B, Kosaki K
Teratology 63 ( 3 ) 119-126 2001.03
Research paper (scientific journal), Joint Work
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Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension.
KOSAKI KENJIROKosaki K, Yoshihashi H, Ohashi Y, Kosaki R, Suzuki T, Matsuo N
Journal of Biochemical and Biophysical Methods 47 ( 1-2 ) 111-119 2001.01
Research paper (scientific journal), Joint Work
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核内転写因子の遺伝子異常による多発性奇形症候群
KOSAKI KENJIRO
THE BONE 15681 - 15683 2001
Research paper (scientific journal), Single Work
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Reply to Mergenthaler et al.
KOSAKI KENJIROYoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K
American Journal of Human Genetics 68 544-546 2001
Research paper (scientific journal), Joint Work
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免疫不全を伴う短肢型小人症
KOSAKI KENJIRO
免疫不全症候群（下巻） 日本臨床領域別症候群シリーズ 32 574-575 2001
Research paper (scientific journal), Joint Work
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Dermal hypoplasia, focal
KOSAKI KENJIRO
先天異常症候群事典（上巻） 日本臨床 領域別症候群シリーズ 33 545-547 2001
Research paper (scientific journal), Joint Work
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Russell-Silver症候群 染色体・奇形
KOSAKI KENJIRO
小児科診療 「小児の症候群」 64 ( 増刊 ) 57 2001
Research paper (scientific journal), Joint Work
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【成長障害】 最新のトピックス Russell-Silver症候群 第7番染色体母性片親性ダイソミーをめぐる話題
Kosaki Kenjirou，Yoshihashi Hiroshi
小児科診療 64 911-914 2001
Research paper (scientific journal), Joint Work
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小児の症候群 新生児 IUGR(子宮内発育遅延)
Yoshihashi Hiroshi，Kosaki Kenjirou
小児科診療 64 ( 増刊号 ) 435 2001
Research paper (scientific journal), Joint Work
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染色体・奇形 Townes-Brocks症候群
Tsuchihashi Takashi，Kosaki Kenjirou
小児科診療 増刊号 ( 小児の症候群 ) 64 2001
Research paper (scientific journal), Joint Work
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免疫不全を伴う短肢型小人症
Kosaki Kenjiro, Yoshihashi Hiroshi
別冊日本臨床 領域別症候群シリーズ * ( 32 ) 324-326 2000.12
Research paper (scientific journal), Joint Work